1.
Prenat Diagn
; 20(13): 1055-62, 2000 Dec.
Article
in English
| MEDLINE
| ID: mdl-11180229
ABSTRACT
A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase chain reaction (PCR) assay suitable for preimplantation genetic diagnosis (PGD) and here we report on the clinical application of this assay.